Aicardi-goutieres syndrome 3

Preferred Label : Aicardi-goutieres syndrome 3;

Symbol : AGS3;

CISMeF acronym : AGS3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ribonuclease H2, subunit C gene (RNASEH2C, 610330.0001);

Laboratory abnormalities : Increased serum alpha-interferon; Increased CSF alpha-interferon; CSF lymphocytosis;

Prefixed ID : #610329;

Details

Origin ID

610329;

UMLS CUI

C1835916;

Automatic exact mappings (from CISMeF team)
- G protein signaling modulator 1 [HGNC gene]
- ribonuclease H2 subunit C [ORDO Gene]
- ribonuclease H2 subunit C [HGNC gene]
Broader ORDO disease(s)
- Aicardi-Goutières syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Aicardi Goutieres syndrome type 3 (disorder) [SNOMED CT concept]
- Aicardi-Goutieres syndrome 3 [MeSH concept]
- Aicardi-Goutieres syndrome 3 [MeSH Supplementary Concept]
- Aicardi-Goutières syndrome type 3 [ICD-11 More detail]
DO Cross reference
- Aicardi-Goutieres syndrome [DO Concept]
Genes related to phenotype
- Ribonuclease h2, subunit C [OMIM gene]
HPO term(s)
- Abnormal cerebral white matter morphology [HPO term]
- Autosomal recessive inheritance [HPO term]
- CSF lymphocytic pleiocytosis [HPO term]
- Cerebral calcification [HPO term]
- Chilblains [HPO term]
- Death in childhood [HPO term]
- Delayed myelination [HPO term]
- Dystonia [HPO term]
- Elevated hepatic transaminase [HPO term]
- Encephalopathy [HPO term]
- Generalized hypotonia [HPO term]
- Hepatosplenomegaly [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Nystagmus [HPO term]
- Progressive [HPO term]
- Progressive microcephaly [HPO term]
- Severe global developmental delay [HPO term]
- Spasticity [HPO term]
- Thrombocytopenia [HPO term]
ORDO concept(s)
- Aicardi-Goutières syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Aicardi-Goutieres syndrome 3 [MeSH Supplementary Concept]
- Aicardi-Goutieres syndrome 3 [MeSH concept]

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